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Pyridoxal phosphate-responsive seizures

Disease definition

Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

ORPHA:79096

  • Synonym(s):
    • PNPO deficiency
    • PNPO-related neonatal epileptic encephalopathy
    • Pyridoxal phosphate-dependent seizures
    • Pyridoxamine 5'-oxidase deficiency
    • Pyridoxamine 5'-phosphate oxidase deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G40.8
  • OMIM: 610090
  • UMLS: C1864723
  • MeSH: -
  • GARD: 10730
  • MedDRA: -

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